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Congenital Anomilies
NMS Test 2
Question | Answer |
---|---|
Congenital Anomiles | defects in the development of body form or function that are present at the time of birth |
What percent of infants have observable defects at the time of birth | 3% |
What percent of babies will have detectable defects identified by age 1 | 6% |
What are the most important etiologies to consider | genetic defects, environmental influences, or a combo |
Aplasia | failure to form entirely |
Hypoplasia | failure to grow to normal size |
Dysplasia | growth is abnormal |
hypertrophy | overgrown |
Arrested | failure of completion of growth |
Examples of localized congenital anomalies of joints | unstable, dislocated, Klippel-Feil syndrome, club foot |
Diagnosis of congenital anomilies | can be done before baby is born but not all can be diagnosed like this |
Maternal Serum Alpha Fetoprotein | when a fetus has an open neural tube defect |
How to test for Maternal serum alpha fetoprotein | the level is elevated |
What to do if there is an elevated MSAFP | meticulois, detailed ultrasonographic evaluation of the fetal anatomy |
Abnormalities that can be diagnosed prior to birth | Achondroplasia, osteogenesis imperfecta, amyoplasia Congenita |
Congenital overriding of the fifth toe results from | a dorsal subluxation of the metatarsophalangeal joint |
What can they do for a congenital overriding of the fifth toe and does it work | surgery is usually done and has positive outcomes |
Congential varus of the small toes is also known as what | curly toes |
What happens in congenital varus of the small toes | the end of the curved toe tends to lie under its medial neighbor |
Metatarsus Primus Varus | adduction deformity where there is a medial deviation of the first metatarsal |
Metatarsus Adductus | varus deviation of all five metatarsals in relation to the hindfoot |
Metatarsus adductus causes the foot to have what shape | concave inner border and a convex outer boarder |
How often does metatarsus adductus happen | 2 in every 1000 live births |
What is the treatment for metatarsus adductus if it is a mild case | if it is mild then the stretching the parents does works and do not allow them to sleep face down |
The most extreme cases of metatarsus adductus will have to be treated how | with Denis Browne type of boot splint at night or a Wheaton brace |
Congenital Club Foot | forefoot adduction and supination through the medtarsal joint, equinus through the angle jointk, and medial deviation of the entire foot in relation to the knee |
Talipes Varus | J shape - foot inwards |
Talipes Valgus | L shaped - foot rotates outward |
Talipes equinos | foot downward - toe dancer |
Talipes Calcaneovalgus | foot upward - heel pointing down |
Treatment of club foot | casts, Denis Browne splint, and straight last shoes/boots, but can lead to surgery |
Congenital Plantar Flexed Talus | plantar flexion of the hindfoot and dorsiflexion of the forefoot |
Treatment of Congenital Plantar Flexed Talus | surgery is needed for this |
Tarsal Coalition | any two of the tarsal bones in the hindfoot may be congenitally joined together by a bridge or bar |
Treatment of Tarsal Coalition at a young age | surgical excision of the area |
Aplasia - Hypoplasia of the long bones | is very rare ut if it happens it involes the fibula, tibia, or femur |
Illizarov Technique is used for what | limb length inequality, |
Congenital dislocation of the knee | anterior dislocation of the knee joint causing it to go into gross hyperextension and abduction |
Developmental Coxa vara | congenital degect of ossification in the femoral neck |
Results of coxa vara | short limb, positive trendelenburg sign, lurching gait |
Treatment of coxa vara | surgical abduction subtrochanteric osteotomy of the femur |
If developmental dysplasia of the hip is treated early what can happen | painfull crippling degenerative arthritis of the hip early in life |
Dislocation of the hip refers to what | the femoral head being completely outside the socket but still within the stretched and elongated capsule |
Subluxation of the hip refers to what | the femoral head riding literally and proximally but still in contact with at least a part of the acetabulum |
How often does developmental dysplasia of the hip | 1.5 cases for every 1000 live births |
Statistics of DD of Hip | bilateral in more than half, eight times more often does it affect females, family history of it matters, high in breach presentation births |
What ortho tests are used to identify DDH | Barlow's, Ortolani's sign, x-ray |
What is barlow's test | hip is adducted slightly while pressing downward along the long axis of the femur, when positive the femoral head slides posteriorly out of the acetabulum |
Ortalani's Sign | if the hip is already dislocated, the femoral head lies posterior to the acetabulum when the hip is in the flexed position and it can be reduced by abduction whiile lifting the femur forward |
If you see an extra horizontal buttock fild skin crease or limitation of passibe abduction what should you think | DDH |
A positive trendelenburg's sign | when the child stands on the foot of the effected side the hip abductor muscles cannot hold the pelvis |
If child has DDH what can be done | manual reduction and then Frejka pillow splint or Pavlik harness |
Congenital Hemihypertrophy | congenital enlargment of a lower limb and an upper limb on the same side as well as the entire half of the trunk and face |
What happens in 2% of the kids that have congenital hemihypertrophy | Wilm's tumor of the kidney |
Treatment of Congenital hemihypertrophy | only concern is limb length differenc eand could arrest the limb growth or lengthen the short leg |
What causes congenital trigget thumb | congenital constriction of the fibrous sheath of the flexor pollicis longus tendon |
Treatment for congenital trigger thumb | surgical divvision of the fibrous sheath |
Syndactyly | Webbing of the fingers |
What is the most common congenital abnormality of the hand | syndactyly |
Hypoplasia of the radius | clubhand - radial deviation of the hand |
Treatment of hypoplasia of the hand | surgical intervention for severe bilateral radial deviation |
Dislocation of the head of the radius | radius is dislocated laterally and overgrows in length |
Cleidocranial dysostosis | is when hypoplasia of the clavicals and delayed ossification of the skull happens |
Where is spina bifida most common | lumbo-sacral junction |
Etiological factors of spina bifida | mother has an elevated serum alpha-fetoprotein level, and inadequate intake of folic acid |
Spina Bifida Occulta | the mildest degree only visible on x-ray, not symptomatic |
Spina Bifida with Meningocele | meninges may extrude through a larger efect in neural arches forming a meningocele, covered by normal skin |
Spina Bifida with Meningomyelocele | spinal cord and nerve roots are involved, no muscle or fat present, skin can be thin if present at all, associated with severe neurological deficts |
Spnia Bifida wth Myelocel Rachischis | most severe, skin and sura have failed to close and everything is exposed, death during early infancy because of infection |
Congenital Scoliosis | Lateral curvature of the spine resulting from congenital anomalies within the vertebral column and related tissues |
Klippel-Feil syndrom | failure of segmentation of the cervical spine |
Wry Neck | congenital torticollis |
Congenital torticollis | contrature of one of the SCM muslcles, the head becomes tilted, or laterally flexed toward the affected side and rotated toward the opposite side |
Osteogenesis Imperfecta | Brittle bones, gongenital osteoporosis |
how many types of osteogenesis imperfecta are there | 4 |
Type 1 | most common and mildest, head appears large, dentinogenesis |
Type 2 | most sever type, lethal, multiple fractures |
Type 3 | severe, fractures before walking, bowed limbs, dwarfism, kyphosis, and scoliosis |
Type 4 | fairly mild, sclerae are normal in color |
Achondroplasia (dwarfism) | short limb type, small midface and jaw with enlarged head |
Arachnodactyly | spider fingers |
What happens in Arachnodactyly | hyperchondrooplasia, child is taller and thinner than average, generalized weakness, scoliosis is common,, flat feet, |
Enchondromatosis or Ollier's dyschondroplasia | defective longitudinal growth of some long bones, unilateral, cartilaginous cells turn into solid bone and become enlarged cartilaginous mass with metaphysis |
Radiographic appearance of Ollier's enchondomatosis | widened metaphysis, irregular ossification and calcification, |
Treatment of Ollier's Enchondomatosis | surgical correction of bony deformities, or correction of limb length differences |
Multiple Hereditary Exostoses | multiple outgrowths of bone and cartilage from very broad metaphyseal regions of long bones, lack of normal osteoclastic activity |
Treatment of Multiple hereditary Exostoses | surgical removal of only those that are causing difficulties, or are of notable cosmetic concern |
Neurofibromatosis | von Recklinghausesn's Disease, generalized congenital abnormality of peripheral nerves |
Cafe-au-lait spots | areas of ligh brown pigmentation |
Amyotonia Congenital | generalized congenital abnormality of muscle charachterized at birth by an extreme lack of muscle tone |
Amyoplasia Congenita | cripplng congenital abnormality of muscle development charachterized by marked stiffness of the limbs |